Canonical Allele Identifier: CA2392191225

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505187_45505239delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC , CM000683.2:g.45505187_45505239delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC	GRCh38
NC_000021.8:g.46925101_46925153delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC , CM000683.1:g.46925101_46925153delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC	GRCh37
NC_000021.7:g.45749529_45749581delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC	NCBI36
NG_011903.1:g.104996_105048delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC
NG_028278.2:g.62905_62957delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3462_3514delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	ENSP00000347665.5:p.Gly1154=
ENST00000651438.1:c.2922_2974delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1) MANE Select	ENSP00000498485.1:p.Gly974=
ENST00000342220.9:c.963_1015delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	ENSP00000339118.5:p.Gly321=
ENST00000355480.9:c.3462_3514delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	ENSP00000347665.5:p.Gly1154=
ENST00000359759.8:c.4167_4219delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	ENSP00000352798.4:p.Gly1389=
ENST00000400337.6:c.2922_2974delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	ENSP00000383191.2:p.Gly974=
ENST00000417954.5:c.498-6627_498-6575delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT (SLC19A1)
ENST00000567670.5:c.1294-6627_1294-6575delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT (SLC19A1)	ENSP00000457278.1:n.1294-6627_1294-6575delinsGGCCTGGGGGGCCGGG...
NM_030582.3:c.3453_3505delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	NP_085059.2:p.Gly1151=
NM_130444.2:c.4158_4210delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	NP_569711.2:p.Gly1386=
NM_130445.3:c.2913_2965delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	NP_569712.2:p.Gly971=
XM_011529707.1:c.1585-2270_1585-2218delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT (SLC19A1)	XP_011528009.1:n.1585-2270_1585-2218delinsGGCCTGGGGGGCCGGGAGG...
XM_017028445.2:c.1585-2270_1585-2218delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT (SLC19A1)	XP_016883934.1:n.1585-2270_1585-2218delinsGGCCTGGGGGGCCGGGAGG...
NM_030582.4:c.3453_3505delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	NP_085059.2:p.Gly1151=
NM_130444.3:c.4158_4210delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	NP_569711.2:p.Gly1386=
NM_130445.4:c.2913_2965delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1)	NP_569712.2:p.Gly971=
NM_001379500.1:c.2922_2974delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (COL18A1) MANE Select	NP_001366429.1:p.Gly974=